Overview
Aurocephalosyndactyly is an extremely rare genetic condition that belongs to a group of disorders known as acrocephalosyndactyly syndromes. These conditions involve an abnormal shape of the skull (craniosynostosis, where the bones of the skull fuse too early) combined with webbing or fusion of the fingers and/or toes (syndactyly). The name 'auro' refers to features that may also involve the ears. Because the skull bones close prematurely, the head may develop an unusual tall or pointed shape, and the brain may not have enough room to grow normally, which can sometimes lead to increased pressure inside the skull. Children born with this condition typically show visible differences in the shape of their head and hands at birth. The degree of finger and toe fusion can vary, and some children may also have differences in their facial features, such as widely spaced eyes or a flat midface. Hearing problems and developmental delays may also occur in some cases. Because aurocephalosyndactyly is so rare, there is no single standard treatment protocol. Management usually involves a team of specialists and may include surgery to release the fused skull bones (to allow normal brain growth), surgery to separate fused fingers (to improve hand function), and supportive therapies such as speech therapy and occupational therapy. Early intervention is important to give children the best chance for healthy development.
Also known as:
Key symptoms:
Abnormally shaped skull (tall or pointed head)Early fusion of skull bones (craniosynostosis)Webbed or fused fingersWebbed or fused toesFlat or underdeveloped midfaceWidely spaced eyesEar abnormalities or hearing problemsPossible developmental delaysPossible learning difficultiesDifficulty with fine motor skills due to fused fingersIncreased pressure inside the skull
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Aurocephalosyndactyly.
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Specialists
View all specialists →No specialists are currently listed for Aurocephalosyndactyly.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Aurocephalosyndactyly.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe is the skull fusion, and when should surgery be done?,What is the plan for separating the fused fingers, and how many surgeries might be needed?,Should my child have genetic testing, and what will the results tell us?,What signs of increased pressure in the skull should I watch for at home?,Will my child need hearing or vision support?,What therapies should we start early to support development?,Is there a risk that future children could also have this condition?
Common questions about Aurocephalosyndactyly
What is Aurocephalosyndactyly?
Aurocephalosyndactyly is an extremely rare genetic condition that belongs to a group of disorders known as acrocephalosyndactyly syndromes. These conditions involve an abnormal shape of the skull (craniosynostosis, where the bones of the skull fuse too early) combined with webbing or fusion of the fingers and/or toes (syndactyly). The name 'auro' refers to features that may also involve the ears. Because the skull bones close prematurely, the head may develop an unusual tall or pointed shape, and the brain may not have enough room to grow normally, which can sometimes lead to increased pressur
How is Aurocephalosyndactyly inherited?
Aurocephalosyndactyly follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Aurocephalosyndactyly typically begin?
Typical onset of Aurocephalosyndactyly is neonatal. Age of onset can vary across affected individuals.